Gene/Proteome Database (LMPD)

LMPD ID
LMP006668
Gene ID
10908
Species
Homo sapiens (Human)
Gene Name
patatin-like phospholipase domain containing 6
Gene Symbol
PNPLA6
Synonyms
BNHS; NTE; NTEMND; SPG39; iPLA2delta; sws
Alternate Names
neuropathy target esterase; patatin-like phospholipase domain-containing protein 6
Chromosome
19
Map Location
19p13.2
EC Number
3.1.1.5
Summary
This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Orthologs
View orthologs and multiple alignments for PNPLA6

Proteins

neuropathy target esterase isoform a
Refseq ID NP_001159583
Protein GI 260656037
UniProt ID Q8IY17
mRNA ID NM_001166111
Length 1375
RefSeq Status REVIEWED
MEAPLQTGMMGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQVLGVMIGAGVAVVVTAVLILLVVRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTSSLVDTSVSATSRPRMRKKLKMLNIAKKILRIQKETPTLQRKEPPPAVLEADLTEGDLANSHLPSEVLYMLKNVRVLGHFEKPLFLELCRHMVFQRLGQGDYVFRPGQPDASIYVVQDGLLELCLPGPDGKECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAARDSTVLRLPVEAFSAVFTKYPESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPTRTSPVRGSKRMVSTSATDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVSMPGDISGLQGGPRSDFDMAYERGRISVSLQEEASGGSLAAPARTPTQEPREQPAGACEYSYCEDESATGGCPFGPYQGRQTSSIFEAAKQELAKLMRIEDPSLLNSRVLLHHAKAGTIIARQGDQDVSLHFVLWGCLHVYQRMIDKAEDVCLFVAQPGELVGQLAVLTGEPLIFTLRAQRDCTFLRISKSDFYEIMRAQPSVVLSAAHTVAARMSPFVRQMDFAIDWTAVEAGRALYRQGDRSDCTYIVLNGRLRSVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRATTVHAVRDTELAKLPEGTLGHIKRRYPQVVTRLIHLLSQKILGNLQQLQGPFPAGSGLGVPPHSELTNPASNLATVAILPVCAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARLGASALDSIQEFRLSGWLAQQEDAHRIVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRALKQLVLLHREEGAGPTRTVEWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRRADRHSDFSRLARVLTGNTIALVLGGGGARGCSHIGVLKALEEAGVPVDLVGGTSIGSFIGALYAEERSASRTKQRAREWAKSMTSVLEPVLDLTYPVTSMFTGSAFNRSIHRVFQDKQIEDLWLPYFNVTTDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCDPKDGHLLMDGGYINNLPADIARSMGAKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEIQSRLAYVSCVRQLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRGNVIEKMLTDRRSTDLNESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDCLTEYEEDAGPDCSRDEGGSPEGASPSTASEMEEEKSILRQRRCLPQEPPGSATDA
neuropathy target esterase isoform b
Refseq ID NP_006693
Protein GI 116256487
UniProt ID Q8IY17
mRNA ID NM_006702
Length 1327
RefSeq Status REVIEWED
MEAPLQTGMVLGVMIGAGVAVVVTAVLILLVVRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTSSLVDTSVSATSRPRMRKKLKMLNIAKKILRIQKETPTLQRKEPPPAVLEADLTEGDLANSHLPSEVLYMLKNVRVLGHFEKPLFLELCRHMVFQRLGQGDYVFRPGQPDASIYVVQDGLLELCLPGPDGKECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAARDSTVLRLPVEAFSAVFTKYPESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPTRTSPVRGSKRMVSTSATDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVSMPGDISGLQGGPRSDFDMAYERGRISVSLQEEASGGSLAAPARTPTQEPREQPAGACEYSYCEDESATGGCPFGPYQGRQTSSIFEAAKQELAKLMRIEDPSLLNSRVLLHHAKAGTIIARQGDQDVSLHFVLWGCLHVYQRMIDKAEDVCLFVAQPGELVGQLAVLTGEPLIFTLRAQRDCTFLRISKSDFYEIMRAQPSVVLSAAHTVAARMSPFVRQMDFAIDWTAVEAGRALYRQGDRSDCTYIVLNGRLRSVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRATTVHAVRDTELAKLPEGTLGHIKRRYPQVVTRLIHLLSQKILGNLQQLQGPFPAGSGLGVPPHSELTNPASNLATVAILPVCAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARLGASALDSIQEFRLSGWLAQQEDAHRIVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRALKQLVLLHREEGAGPTRTVEWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRRADRHSDFSRLARVLTGNTIALVLGGGGARGCSHIGVLKALEEAGVPVDLVGGTSIGSFIGALYAEERSASRTKQRAREWAKSMTSVLEPVLDLTYPVTSMFTGSAFNRSIHRVFQDKQIEDLWLPYFNVTTDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCDPKDGHLLMDGGYINNLPADIARSMGAKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEIQSRLAYVSCVRQLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRGNVIEKMLTDRRSTDLNESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDCLTEYEEDAGPDCSRDEGGSPEGASPSTASEMEEEKSILRQRRCLPQEPPGSATDA
neuropathy target esterase isoform b
Refseq ID NP_001159585
Protein GI 260656041
UniProt ID Q8IY17
mRNA ID NM_001166113
Length 1327
RefSeq Status REVIEWED
Protein sequence is identical to GI:116256487 (mRNA isoform)
neuropathy target esterase isoform c
Refseq ID NP_001159584
Protein GI 260656039
UniProt ID Q8IY17
mRNA ID NM_001166112
Length 1300
RefSeq Status REVIEWED
MEAPLQTGMVLGVMIGAGVAVVVTAVLILLVVRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTSSLVDTSVSATSRPRMRKKLKMLNIAKKILRIQKETPTLQRKEPPPAVLEADLTEGDLANSHLPSEVLYMLKNVRVLGHFEKPLFLELCRHMVFQRLGQGDYVFRPGQPDASIYVVQDGLLELCLPGPDGKECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAARDSTVLRLPVEAFSAVFTKYPESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPTRTSPVRGSKRMVSTSATDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVSMPGDISGLQGGPRSDFDMAYERGRISVSLQEEASGGSLAAPARTPTQEPREQPAGACEYSYCEDESATGGCPFGPYQGRQTSSIFEAAKQELAKLMRIEDVSLHFVLWGCLHVYQRMIDKAEDVCLFVAQPGELVGQLAVLTGEPLIFTLRAQRDCTFLRISKSDFYEIMRAQPSVVLSAAHTVAARMSPFVRQMDFAIDWTAVEAGRALYRQGDRSDCTYIVLNGRLRSVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRATTVHAVRDTELAKLPEGTLGHIKRRYPQVVTRLIHLLSQKILGNLQQLQGPFPGSGLGVPPHSELTNPASNLATVAILPVCAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARLGASALDSIQEFRLSGWLAQQEDAHRIVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRALKQLVLLHREEGAGPTRTVEWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRRADRHSDFSRLARVLTGNTIALVLGGGGARGCSHIGVLKALEEAGVPVDLVGGTSIGSFIGALYAEERSASRTKQRAREWAKSMTSVLEPVLDLTYPVTSMFTGSAFNRSIHRVFQDKQIEDLWLPYFNVTTDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCDPKDGHLLMDGGYINNLPADIARSMGAKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEIQSRLAYVSCVRQLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRGNVIEKMLTDRRSTDLNESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDCLTEYEEDAGPDCSRDEGGSPEGASPSTASEMEEEKSILRQRRCLPQEPPGSATDA
neuropathy target esterase isoform d
Refseq ID NP_001159586
Protein GI 260656043
UniProt ID Q8IY17
mRNA ID NM_001166114
Length 1365
RefSeq Status REVIEWED
Protein sequence is identical to GI:116256487 (mRNA isoform)

Gene Information

Entrez Gene ID
10908
Gene Name
patatin-like phospholipase domain containing 6
Gene Symbol
PNPLA6
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005783 IEA:UniProtKB-KW C endoplasmic reticulum
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0016020 IDA:UniProtKB C membrane
GO:0004622 IEA:UniProtKB-EC F lysophospholipase activity
GO:0001525 IEA:Ensembl P angiogenesis
GO:0008219 IEA:UniProtKB-KW P cell death
GO:0016042 IEA:UniProtKB-KW P lipid catabolic process
GO:0009887 IEA:Ensembl P organ morphogenesis
GO:0046470 IEA:InterPro P phosphatidylcholine metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00564 Glycerophospholipid metabolism
ko00564 Glycerophospholipid metabolism

Domain Information

InterPro Annotations

Accession Description
IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase
IPR000595 Cyclic nucleotide-binding domain
IPR018490 Cyclic nucleotide-binding-like
IPR001423 Lysophospholipase patatin, conserved site
IPR002641 Patatin/Phospholipase A2-related
IPR014710 RmlC-like jelly roll fold

UniProt Annotations

Entry Information

Gene Name
patatin-like phospholipase domain containing 6
Protein Entry
PLPL6_HUMAN
UniProt ID
Q8IY17
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q8IY17-1; Sequence=Displayed; Name=2; IsoId=Q8IY17-2; Sequence=VSP_026388; Name=3; IsoId=Q8IY17-3; Sequence=VSP_026389; Note=No experimental confirmation available.; Name=4; IsoId=Q8IY17-4; Sequence=VSP_046064; Note=No experimental confirmation available.; Name=5; IsoId=Q8IY17-5; Sequence=VSP_026388, VSP_046975, VSP_026389;
Catalytic Activity 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate.
Disease Boucher-Neuhauser syndrome (BNHS) [MIM
Disease Spastic paraplegia 39, autosomal recessive (SPG39) [MIM
Enzyme Regulation Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon.
Function Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.
Ptm Glycosylated.
Similarity Belongs to the NTE family.
Similarity Contains 1 patatin domain.
Similarity Contains 3 cyclic nucleotide-binding domains.
Subcellular Location Endoplasmic reticulum membrane ; Single-pass type I membrane protein ; Cytoplasmic side . Note=Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment.
Tissue Specificity Expressed in brain, placenta, kidney, neuron and skeletal muscle.

Identical and Related Proteins

Unique RefSeq proteins for LMP006668 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
260656037 RefSeq NP_001159583 1375 neuropathy target esterase isoform a
116256487 RefSeq NP_006693 1327 neuropathy target esterase isoform b
260656039 RefSeq NP_001159584 1300 neuropathy target esterase isoform c

Identical Sequences to LMP006668 proteins

Reference Database Accession Length Protein Name
GI:116256487 EMBL CAA06164.1 1327 neuropathy target esterase [Homo sapiens]
GI:116256487 GenBank AAH51768.1 1327 Patatin-like phospholipase domain containing 6 [Homo sapiens]
GI:116256487 GenBank EAW69029.1 1327 neuropathy target esterase, isoform CRA_a [Homo sapiens]
GI:116256487 GenBank AIC50747.1 1327 PNPLA6, partial [synthetic construct]
GI:116256487 RefSeq NP_001159585.1 1327 neuropathy target esterase isoform b [Homo sapiens]

Related Sequences to LMP006668 proteins

Reference Database Accession Length Protein Name
GI:260656037 DBBJ BAG57380.1 1375 unnamed protein product [Homo sapiens]
GI:260656039 DBBJ BAH13718.1 1300 unnamed protein product [Homo sapiens]
GI:116256487 GenBank AAH50553.1 1327 Patatin-like phospholipase domain containing 6 [Homo sapiens]
GI:116256487 GenBank ACG81193.1 1402 Sequence 5 from patent US 7384748
GI:116256487 GenBank AHD73207.1 1327 Sequence 10275 from patent US 8586006
GI:116256487 GenBank AIC63310.1 1327 PNPLA6, partial [synthetic construct]
GI:260656039 RefSeq NP_001159585.1 1327 neuropathy target esterase isoform b [Homo sapiens]
GI:260656037 RefSeq NP_001159586.1 1365 neuropathy target esterase isoform d [Homo sapiens]
GI:260656037 RefSeq XP_004059924.1 1375 PREDICTED: neuropathy target esterase isoform 2 [Gorilla gorilla gorilla]
GI:260656037 RefSeq XP_005587813.1 1375 PREDICTED: neuropathy target esterase isoform X1 [Macaca fascicularis]
GI:260656039 RefSeq XP_005587819.1 1300 PREDICTED: neuropathy target esterase isoform X7 [Macaca fascicularis]
GI:260656039 RefSeq XP_005587820.1 1300 PREDICTED: neuropathy target esterase isoform X8 [Macaca fascicularis]
GI:260656039 RefSeq XP_008960626.1 1326 PREDICTED: LOW QUALITY PROTEIN: neuropathy target esterase [Pan paniscus]
GI:260656037 RefSeq XP_009250961.1 1366 PREDICTED: neuropathy target esterase isoform X1 [Pongo abelii]
GI:116256487 RefSeq XP_009250962.1 1327 PREDICTED: neuropathy target esterase isoform X2 [Pongo abelii]
GI:116256487 RefSeq XP_009250963.1 1327 PREDICTED: neuropathy target esterase isoform X2 [Pongo abelii]
GI:260656039 RefSeq XP_009250966.1 1326 PREDICTED: neuropathy target esterase isoform X3 [Pongo abelii]
GI:260656037 SwissProt Q8IY17.2 1366 RecName: Full=Neuropathy target esterase; AltName: Full=Patatin-like phospholipase domain-containing protein 6 [Homo sapiens]